1. Gene
  2. TSR2 - TSR2 ribosome maturation factor Gene

TSR2 - TSR2 ribosome maturation factor Gene

中文名称:TSR2 核糖体成熟因子

种属: Homo sapiens

同用名: WGG1; DBA14; DT1P1A10

基因 ID: 90121 | 基因类型: protein coding

关于 TSR2

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:54,440,404-54,448,032 (from NCBI)

This gene has 1 transcript (splice variant), 190 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 38.9), kidney (RPKM 30.3) and 25 other tissues.

功能概要

该基因编码的蛋白质似乎抑制 NF-kappaB 的转录,并可能参与细胞凋亡。该基因的缺陷是导致 Diamond-Blackfan 贫血的原因。[RefSeq 提供,2016 年 10 月]

The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in Apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]

TSR2 基因产物(5)

mRNA Protein Name
NM_001346789.2 NP_001333718.1 pre-rRNA-processing protein TSR2 homolog isoform b
NM_001346790.2 NP_001333719.1 pre-rRNA-processing protein TSR2 homolog isoform c
NM_001346791.2 NP_001333720.1 pre-rRNA-processing protein TSR2 homolog isoform c
NM_001346792.2 NP_001333721.1 pre-rRNA-processing protein TSR2 homolog isoform c
NM_058163.3 NP_477511.1 pre-rRNA-processing protein TSR2 homolog isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TSR2 蛋白结构

WGG

WGG: Pre-rRNA-processing protein TSR2 (12 - 92)

  • 0
  • 100
  • 191 a.a.
蛋白主名 其他名称

pre-rRNA-processing protein TSR2 homolog

TSR2, 20S rRNA accumulation, homolog

TSR2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra TSR2 Q969E8 CREB5 Homo sapiens Q02930-3
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 CREB5 Homo sapiens Q02930-3
Y2H Array
32296183
Intra TSR2 Q969E8 KIF16B Homo sapiens Q96L93-6
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 KIF16B Homo sapiens Q96L93-6
Validated Y2H
32296183
Intra TSR2 Q969E8 KIF16B Homo sapiens Q96L93-6
Y2H Array
32296183
Intra TSR2 Q969E8 DISC1 Homo sapiens Q9NRI5-2
Y2H Array
32296183
Intra TSR2 Q969E8 DISC1 Homo sapiens Q9NRI5-2
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 DISC1 Homo sapiens Q9NRI5-2
Validated Y2H
32296183
Intra TSR2 Q969E8 SPATC1L Homo sapiens Q9H0A9-2
Validated Y2H
32296183
Intra TSR2 Q969E8 SPATC1L Homo sapiens Q9H0A9-2
Y2H Array
32296183
Intra TSR2 Q969E8 SPATC1L Homo sapiens Q9H0A9-2
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 CMIP Homo sapiens Q8IY22-3
Y2H Array
32296183
Intra TSR2 Q969E8 CMIP Homo sapiens Q8IY22-3
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 PTRHD1 Homo sapiens Q6GMV3
Y2H Array
32296183
Intra TSR2 Q969E8 PTRHD1 Homo sapiens Q6GMV3
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 DAPL1 Homo sapiens A0PJW8
Y2H Array
32296183
Intra TSR2 Q969E8 DAPL1 Homo sapiens A0PJW8
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 CAMK2A Homo sapiens Q9UQM7
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 CAMK2A Homo sapiens Q9UQM7
Y2H Array
32296183
Intra TSR2 Q969E8 CAMK2A Homo sapiens Q9UQM7
Validated Y2H
32296183
Intra TSR2 Q969E8 KIFC3 Homo sapiens Q9BVG8-5
Validated Y2H
32296183
Intra TSR2 Q969E8 KIFC3 Homo sapiens Q9BVG8-5
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 KIFC3 Homo sapiens Q9BVG8-5
Y2H Array
32296183
Intra TSR2 Q969E8 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra TSR2 Q969E8 ZNF474 Homo sapiens Q6S9Z5
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 ZNF474 Homo sapiens Q6S9Z5
Y2H Array
32296183
Intra TSR2 Q969E8 GSC2 Homo sapiens O15499
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 GSC2 Homo sapiens O15499
Y2H Array
32296183
Intra TSR2 Q969E8 KIFC3 Homo sapiens Q9BVG8
Y2H Prey Pooling
25416956
Intra TSR2 Q969E8 LAMB2 Homo sapiens P55268
Y2H Array
32296183
Intra TSR2 Q969E8 LAMB2 Homo sapiens P55268
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 MAP1LC3C Homo sapiens Q9BXW4
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 MAP1LC3C Homo sapiens Q9BXW4
Y2H Array
32296183
Intra TSR2 Q969E8 MAP1LC3C Homo sapiens Q9BXW4
Validated Y2H
32296183
Intra TSR2 Q969E8 PIAS2 Homo sapiens O75928
Y2H Prey Pooling
25416956
Intra TSR2 Q969E8 PIAS2 Homo sapiens O75928-2
Y2H Array
32296183
Intra TSR2 Q969E8 PIAS2 Homo sapiens O75928-2
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 RPS26 Homo sapiens P62854
Y2H Array
25416956
Intra TSR2 Q969E8 RPS26 Homo sapiens P62854
Y2H Pooling
19060904
Intra TSR2 Q969E8 RPS26 Homo sapiens P62854
Y2H Array
32296183
Intra TSR2 Q969E8 RPS26 Homo sapiens P62854
Anti Tag CoIP
35271311
Intra TSR2 Q969E8 RPS26 Homo sapiens P62854
Y2H Prey Pooling
25416956
Intra TSR2 Q969E8 RPS26 Homo sapiens P62854
Validated Y2H
25416956
Intra TSR2 Q969E8 RPS26 Homo sapiens P62854
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 RPS26 Homo sapiens P62854
Y2H Array
19060904
Intra TSR2 Q969E8 EXOSC3 Homo sapiens Q9NQT5
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 EXOSC3 Homo sapiens Q9NQT5
Validated Y2H
32296183
Intra TSR2 Q969E8 EXOSC3 Homo sapiens Q9NQT5
Y2H Array
32296183
Intra TSR2 Q969E8 ZBTB9 Homo sapiens Q96C00
Validated Y2H
32296183
Intra TSR2 Q969E8 ZBTB9 Homo sapiens Q96C00
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 ZBTB9 Homo sapiens Q96C00
Y2H Array
25416956
Intra TSR2 Q969E8 ZBTB9 Homo sapiens Q96C00
Y2H Array
32296183
Intra TSR2 Q969E8 ZNF620 Homo sapiens Q6ZNG0
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 ZNF620 Homo sapiens Q6ZNG0
Y2H Array
32296183
Intra TSR2 Q969E8 RBM48 Homo sapiens Q5RL73
Y2H Array
32296183
Intra TSR2 Q969E8 RBM48 Homo sapiens Q5RL73
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 GABARAP Homo sapiens O95166
Y2H Array
32296183
Intra TSR2 Q969E8 GABARAP Homo sapiens O95166
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 GABARAPL2 Homo sapiens P60520
Y2H Array
32296183
Intra TSR2 Q969E8 GABARAPL2 Homo sapiens P60520
Y2H Prey Pooling
25416956
Intra TSR2 Q969E8 GABARAPL2 Homo sapiens P60520
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 GABARAPL2 Homo sapiens P60520
Validated Y2H
25416956
Intra TSR2 Q969E8 GABARAPL2 Homo sapiens P60520
Y2H Array
25416956
Intra TSR2 Q969E8 GAS2L3 Homo sapiens Q86XJ1
Y2H Prey Pooling
32296183
Intra TSR2 Q969E8 GAS2L3 Homo sapiens Q86XJ1
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis

DBA14

Diamond-Blackfan Anemia 14, With Mandibulofacial Dysostosis

Anemia, Diamond-Blackfan, Type 14 With Mandibulofacial Dysostosis

Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis

DBA15

Diamond Blackfan Anemia 15 With Mandibulofacial Dysostosis

Diamond-Blackfan Anemia 15, With Mandibulofacial Dysostosis

Diamond-Blackfan Anemia With Microtia And Cleft Palate

Anemia, Diamond Blackfan, Type 15 With Mandibulofacial Dysostosis

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

Aarskog-Scott Syndrome

Aarskog Syndrome

Faciogenital Dysplasia

Faciodigitogenital Syndrome

AAS

Fgdy

X-Linked Aarskog Syndrome

Intellectual Developmental Disorder, X-Linked, Syndromic 16

Aarskog Syndrome, X-Linked

Intellectual Developmental Disorder, X-Linked Syndromic 16

Greig'S Syndrome

Aarskog Scott Syndrome

Aarskog Disease

Scott Aarskog Syndrome

Facio-Digito-Genital Dysplasia

Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

Aarskog-Scott Syndrome ) Syndrome

Macrocytic Anemia

Anemia Macrocytic

Anemia, Macrocytic

Macrocytic Anaemia

Diamond-Blackfan Anemia 10

DBA10

Rps26-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 10

Olmsted Syndrome, X-Linked

OLMSX

Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked

Ppkmx

X-Linked Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

X-Linked Olmsted Syndrome

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques, X-Linked

Geleophysic Dysplasia 3

GPHYSD3

Nail Disorder, Nonsyndromic Congenital, 1

Nonsyndromic Congenital Nail Disorder 1

Twenty-Nail Dystrophy

Claw-Shaped Nails

Nail Disorder, Nonsyndromic Congenital, 10

Onycholysis

NDNC1

Onychauxis, Hyponychia, And Onycholysis

Nonsyndromic Congenital Nail Disorder 10

Idiopathic Trachyonychia

Twenty Nail Dystrophy

Ndnc10

Onychodystrophy Totalis, Isolated

Nail Disorder, Nonsyndromic Congenital, 10, Formerly

Ndnc10, Formerly

Autosomal Dominant Nail Dysplasia

Nail Disorder, Nonsyndromic Congenital 1

Onychodystrophy Totalis

Sandpaper Nails

Trachyonychia

Nail Disorder, Non-Syndromic Congenital, 1

Nail Disorder, Non-Syndromic Congenital, 10

Onychauxis Hyponychia And Onycholysis

Nail Disorder, Nonsyndromic Congenital, Type 10

Detachment Of Nail

Separation Of Nail Plate

Geleophysic Dysplasia 2

GPHYSD2

Geleophysic Dwarfism

Dysplasia, Geleophysic, Type 2

Geleophysic Dysplasia

Dysostosis

Dysostoses

Geleophysic Dysplasia 1

GPHYSD1

Geleophysic Dwarfism

Geleophysic Dysplasia

Severe Congenital Neutropenia 3

Kostmann Syndrome

Infantile Agranulocytosis

Kostmann Disease

Scn3

Severe Congenital Neutropenia Type 3

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus TSR2 MGD MGI:1916749
Canis familiaris TSR2 VGNC VGNC:47930
Rattus norvegicus TSR2 RGD RGD:1562416
Felis catus TSR2 VGNC VGNC:66642